ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.1938G>C (p.Glu646Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003057582 SCV003347743 uncertain significance Brody myopathy 2022-10-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ATP2A1-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 646 of the ATP2A1 protein (p.Glu646Asp). This variant is not present in population databases (gnomAD no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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